Prenatal screening (i.e. presymptomatic testing of pregnant patients) is utilized in developed countries to determine whether a pregnant woman's probability, i.e. risk, of carrying a fetus with certain conditions, such as chromosomal abnormalities and/or physical defects, warrants the risks associated with proceeding to undergo invasive diagnostic procedures. The specific conditions screened for in prenatal screening programs include but are not limited to:
(1) Neural Tube Defects NTDs! (e.g. Anencephaly, Open Spina Bifida), PA1 (2) Ventral Wall Defects VWDs!, and PA1 (3) Chromosomal Anomalies such as Down Syndrome DS!, Turner's Syndrome, Trisomy 13, Trisomy 18 and others. PA1 the levels of the analytes in pregnant women carrying a fetus with the particular condition ("affecteds"), PA1 the levels of the analytes in pregnant women carrying a fetus without the condition ("unaffecteds"), PA1 the prevalence of the condition in the overall population, and PA1 patients' clinical data. PA1 (1) Alpha, by Prosig (USA) Inc., P.O. Box 377, Rockaway, N.J. 07866, PA1 (2) AFP-Expert, by Benetech Medical Systems, 176 St. George Street, Toronto, Ontario Canada M5R 2M7, PA1 (3) AFP/Sample Management Software, by Robert Maciel Associates, Inc., Arlington, Mass., PA1 (4) Prenval, by Base Ten Systems, Trenton, N.J., and PA1 (5) Dermalog, in Germany. PA1 a) means for inputting and storing patient data including patient clinical information and billing information; PA1 b) means for creating analyte runsheets; PA1 c) means for creating a format for analyte runsheets; PA1 d) means for interfacing with laboratory equipment to import assay data; PA1 e) means for calculating patient risks for one or more anomalies selected from the group consisting of: NTDs, VWDs, Down Syndrome, Turner's Syndrome, Edward's Syndrome and Trisomy 13; PA1 f) means for producing patient reports in electronic form; PA1 g) means for creating a database of patient records including patient data and screening data including assay data and patient risks; PA1 h) means for interfacing with a printer to print selected patient reports; PA1 i) means for searching patient records including patient reports and patient data; PA1 j) means for revising and recalculating patient results based on changes in patient's clinical information; PA1 k) means for performing statistical analyses of information contained in the database of patient records; PA1 l) means for creating a database of physicians participating in a screening protocol; PA1 m) means for defining reference data for each analyte for serum (blood) and/or amniotic fluid; PA1 n) means for defining a method of interpolating medians; PA1 o) means for incorporating adjustments for maternal weight, insulin dependence, or multiple pregnancy into the patient's risk calculation; PA1 p) means for defining prevalence data for each condition; PA1 q) means for providing security passwords; PA1 r) means for archiving portions of the patient database; PA1 s) means for interfacing with interfacing with an accounting database; and PA1 t) means for printing patient bills. PA1 i) the system of the present invention may be specifically tailored for use in a screening protocol utilizing AFP and free Beta; PA1 ii) the system of the present invention allows a user to set the population parameters utilized in the generation of a patient specific risk; PA1 iii) the system of the present invention allows a user to define the apriori risk of an NTD, VWD or Chromosomal Anomalies such as Down Syndrome DS!, Turner's Syndrome, Trisomy 13, Trisomy 18 (Edward's Syndrome) and others; at various gestational ages; PA1 iv) the system of the present invention allows for specific risk calculation in twin pregnancies; PA1 v) the system of the present invention allows the generation of customized patient reports, the encoding of these reports into the system database; PA1 vi) the population parameters, and the reference data, utilized in the system of the present invention include levels of free Beta in affecteds and unaffecteds; and PA1 vii) the system of the present invention is user friendly.
Generally, a biological sample, such as a blood or urine sample, is obtained from a pregnant woman by her physician, or by a nurse or technician in her physician's office, during a prenatal examination. The biological sample is then sent to a clinical laboratory for analysis, together with background data on the pregnant woman and documents specifying the types of analyses the physician would like the clinical laboratory to perform.
Clinical laboratories may receive a large number of biological samples on a daily basis. In order to ensure that each sample is correctly handled, and analyzed in accordance with the pregnant woman's and physician's wishes, clinical laboratories need to have a system for tracking the sample, together with any accompanying documents or background data, for the period of time the sample remains in the laboratory.
In prenatal screening, biological samples, such as a blood or urine samples, are obtained from pregnant women and analyzed to quantify the level of specific substances, referred to as "analytes". The level of each analyte in the biological sample is generally determined by assaying the sample using appropriate monoclonal or polyclonal antibodies and reagents. In order to ensure that the proper types of reagents and antibodies are available on a daily basis, it would be desirable for the clinical laboratory to have a system for inventory control. In addition to including antibodies and reagents, the inventory control system may also include the other supplies necessary for operating a clinical laboratory, including, but not limited to, glassware, assay plates, pipettes, paper, writing instruments, and the like.
Common analytes measured in prenatal screening include, but are not limited to alpha-fetoprotein (AFP), unconjugated estriol (UE), human chorionic gonadotropin (hCG), and more recently, the free beta (hCG) protein ("free Beta") and PAPP-A. Prenatal screening utilizing these analytes, and in particular free Beta, is described in co-pending U.S. patent application No. 07/925,844, filed Aug. 6, 1992, the disclosure of which is hereby incorporated by reference.
In a prenatal screening protocol, the levels of an individual patient's analytes are compared to reference data in order to determine the pregnant woman's risk of carrying an "affected" fetus. The reference data comprises:
In general, reference data are obtained from retrospective studies of unaffected and affected deliveries for each week of gestation from approximately, but not limited to, 10-22 weeks.
Certain personal ("clinical") information pertaining to the patient may also be incorporated into the comparison, including but not limited to, the gestational week (referred to as GA for gestational age) of the pregnancy as well as the pregnant woman's age, race or ethnicity, weight, area of residence, family history of birth defects, and/or other medical information such as insulin-dependence for diabetes.
In the field of prenatal screening, computer software systems have been developed that perform analyses using data obtained from biological samples (e.g., blood) obtained from pregnant women and the patients' clinical data. These software systems generally compare levels of specific substances within the sample to reference data (described above) to determine the pregnant woman's risk of carrying a fetus with a Neural Tube Defect (NTD) or Down Syndrome (DS). Examples of other computer software systems are:
The reference data in these known systems is set when the systems are manufactured and are generally not modifiable by the user.
The presence of fixed reference data presents a problem for the user since the distribution of analyte levels measured by laboratories typically changes over time due to the racial composition of the pregnant population, geographic location of the patients served, shifts of the patient population, variation within the blood specimens themselves, modification in laboratory techniques, or combinations of such causes. The prevalence of birth defects within the general population can also alter over time. When users are able to define their own reference data, the laboratory analyzing system is better able to adapt to changes in its patient database and to provide analytical test results with increased precision for each individual patient.
The pregnant woman's risk of carrying an "affected" fetus is generally reported back to the patient's physician (primary care provider). The clinical laboratory then bills the primary care provider, or the patient's insurance provider for the cost of the screening. It would be is desirable for a clinical laboratory to have a finance and accounting system which receives billing/insurance information regarding the patient, and a description of the screening protocols which have been performed using the patient's biological sample, directly from the system utilized by the laboratory to analyze the sample.
The above is a brief description of some deficiencies in disclosed prenatal analysis systems which are overcome by the present invention, and a brief description of features that would be advantageous in the management of a prenatal screening laboratory and are achieved by the present invention. Other features, advantages, and embodiments of the invention are set forth in the following description, accompanying drawings, and appended claims.